Mucolipidosis, Type IV (MCOLN1) 2 Mutations
0051448
Ordering Recommendation
Diagnostic testing for mucolipidosis type IV. Carrier screening for mucolipidosis type IV.
Mnemonic
MCOLN1
Methodology
Polymerase Chain Reaction/Primer Extension
Performed
Tue, Thu
Reported
7-10 days
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report
Interpretive Data
Background information for Mucolipidosis, Type IV (MCOLN1) 2 Mutations:
Characteristics:
Early onset of severe psychomotor delay, progressive visual impairment from corneal clouding and retinal degeneration. 15 percent of affected will have progressive neurological degeneration. Affected persons may learn to say a few words or walk independently.
Incidence:
1 in 63,000 Ashkenazi Jewish individuals; unknown in other ethnicities.
Inheritance:
Autosomal recessive.
Cause:
Pathogenic MCOLN1 gene mutations.
Mutations Tested:
g.511_6493del and c.406-2A>G.
Clinical Sensitivity:
95 percent in Ashkenazi Jewish individuals, unknown in other ethnicities.
Methodology:
Multiplex polymerase chain reaction and Detection Primer Extension.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Limitations:
Mutations other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81290
Components
Component Test Code*Component Chart Name
0051450Mucolipidosis IV (MCOLN1) 2 Mut, Allele1
0051451Mucolipidosis IV (MCOLN1) 2 Mut, Allele2
0051452Mucolipidosis IV (MCOLN1) 2 Mut, InterpM
2001329Mucolipidosis IV (MCOLN1 2 Mut, Spec
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Cross References